H31Y (p.His31Tyr) variant of CSRP3 (P50461)
H31Y (p.His31Tyr) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
H31Y (p.His31Tyr) variant details
- p.His31Tyr
- gnomAD 11-19192358-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available