M42L (p.Met42Leu) variant of CLCN5 (P51795)
M42L (p.Met42Leu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M42L (p.Met42Leu) variant details
- p.Met42Leu
- cosmic curated COSV65800
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- MetaLR 0.48
- MetaSVM -0.45
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available