P34L (p.Pro34Leu) variant of CLCN5 (P51795)
P34L (p.Pro34Leu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- cosmic curated COSV10654
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.18
- MetaLR 0.51
- MetaSVM -0.16
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available