A37T (p.Ala37Thr) variant of CLCN5 (P51795)
A37T (p.Ala37Thr) 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.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- cosmic curated COSV10442
- gnomAD rs1557187293
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.18
- MetaLR 0.38
- MetaSVM -0.70
- CADD 7.07
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.2e-05)
- Structural context available