R6P (p.Arg6Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
R6P (p.Arg6Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- gnomAD 9-134642204-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.57
- CADD 28.70
- PolyPhen-2 0.45
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available