M38V (p.Met38Val) variant of CLCN5 (P51795)
M38V (p.Met38Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- gnomAD rs1557187297
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.17
- MetaLR 0.40
- MetaSVM -0.58
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 4.6e-05)
- Structural context available