A40V (p.Ala40Val) variant of COL3A1 (Collagen alpha-1(III) chain)
A40V (p.Ala40Val) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Connective tissue disorder; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs201380807
- ClinGen CA004121
- cosmic curated COSV10048
- ClinVar RCV000181046
- Conflicting interpretations
- Connective tissue disorder; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.22
- MetaLR 0.23
- MetaSVM -0.68
- CADD 20.10
- PolyPhen-2 0.23
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Connective tissue disorder; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)