H36L (p.His36Leu) variant of CSRP3 (P50461)
H36L (p.His36Leu) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
H36L (p.His36Leu) variant details
- p.His36Leu
- gnomAD 11-19192342-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.24
- MetaLR 0.31
- MetaSVM -0.63
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available