A35T (p.Ala35Thr) variant of CLCN5 (P51795)
A35T (p.Ala35Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- gnomAD X-50042402-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.25
- MetaLR 0.50
- MetaSVM -0.28
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available