H52L (p.His52Leu) variant of CSRP3 (P50461)
H52L (p.His52Leu) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
H52L (p.His52Leu) variant details
- p.His52Leu
- ExAC rs767326021
- TOPMed rs767326021
- gnomAD rs767326021
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.74
- AlphaMissense 0.81
- MetaLR 0.64
- MetaSVM 0.03
- CADD 24.40
- PolyPhen-2 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available