V60A (p.Val60Ala) variant of CSRP3 (P50461)
V60A (p.Val60Ala) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V60A (p.Val60Ala) variant details
- p.Val60Ala
- gnomAD 11-19188238-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.22
- MetaLR 0.49
- MetaSVM -0.44
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available