C40F (p.Cys40Phe) variant of CSRP3 (P50461)
C40F (p.Cys40Phe) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
C40F (p.Cys40Phe) variant details
- p.Cys40Phe
- gnomAD 11-19188298-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.96
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available