D41Y (p.Asp41Tyr) variant of COL3A1 (Collagen alpha-1(III) chain)
D41Y (p.Asp41Tyr) 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 not provided; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- rs794728035
- ClinGen CA004135
- ClinVar RCV001185489
- ClinVar RCV001721132
- Uncertain significance
- not provided; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.34
- MetaLR 0.51
- MetaSVM 0.08
- CADD 27.00
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Polymicrogyria with or without vascular-type Ehler)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)