A35G (p.Ala35Gly) variant of CLCN5 (P51795)
A35G (p.Ala35Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A35G (p.Ala35Gly) variant details
- p.Ala35Gly
- gnomAD rs1557187288
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.20
- MetaLR 0.34
- MetaSVM -0.73
- CADD 5.63
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 7e-05)
- Structural context available