A20V (p.Ala20Val) variant of CSRP3 (P50461)
A20V (p.Ala20Val) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 11-19192390-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.64
- MetaLR 0.86
- MetaSVM 0.74
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available