A27G (p.Ala27Gly) variant of COL3A1 (Collagen alpha-1(III) chain)
A27G (p.Ala27Gly) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- rs759521597
- ClinGen CA076965
- ClinVar RCV004013891
- ExAC rs759521597
- Uncertain significance
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.14
- AlphaMissense 0.07
- MetaLR 0.39
- MetaSVM -0.69
- CADD 2.67
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)