V15A (p.Val15Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
V15A (p.Val15Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V15A (p.Val15Ala) variant details
- p.Val15Ala
- gnomAD rs1481305065
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.41
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available