A14V (p.Ala14Val) variant of COL1A1 (Collagen alpha-1(I) chain)
A14V (p.Ala14Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- NCI-TCGA Cosmic COSV9986
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available