A40V (p.Ala40Val) variant of COL5A2 (Collagen alpha-2(V) chain)
A40V (p.Ala40Val) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs758092388
- ClinGen CA349868820
- NCI-TCGA Cosmic COSV6641
- ClinVar RCV002231317
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.14
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)