C58F (p.Cys58Phe) variant of CSRP3 (P50461)
C58F (p.Cys58Phe) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C58F (p.Cys58Phe) variant details
- p.Cys58Phe
- gnomAD 11-19188244-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.98
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available