A12P (p.Ala12Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
A12P (p.Ala12Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- gnomAD 9-134642221-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.20
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available