C34Y (p.Cys34Tyr) variant of CSRP3 (P50461)
C34Y (p.Cys34Tyr) 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.
C34Y (p.Cys34Tyr) variant details
- p.Cys34Tyr
- gnomAD 11-19192348-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.08
- CADD 26.70
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available