V60L (p.Val60Leu) variant of CSRP3 (P50461)
V60L (p.Val60Leu) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V60L (p.Val60Leu) variant details
- p.Val60Leu
- gnomAD 11-19188239-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- MetaLR 0.53
- MetaSVM -0.42
- CADD 8.12
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available