A12V (p.Ala12Val) variant of COL5A1 (Collagen alpha-1(V) chain)
A12V (p.Ala12Val) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- TOPMed rs995895784
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.14
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available