P49A (p.Pro49Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
P49A (p.Pro49Ala) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- rs1234344050
- ClinGen CA349846991
- ClinVar RCV000758212
- ClinVar RCV000853487
- Likely pathogenic
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.43
- MetaLR 0.45
- MetaSVM -0.17
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.14
- ClinVar: Likely pathogenic (Polymicrogyria with or without vascular-type Ehlers-Danlos syndr)
- EBI: Pathogenic (in PMGEDSV)
- UniProt: Pathogenic (in PMGEDSV)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation… (PMID 28258187)
- Cited in: Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue… (PMID 28742248)