T36S (p.Thr36Ser) variant of CLCN5 (P51795)
T36S (p.Thr36Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T36S (p.Thr36Ser) variant details
- p.Thr36Ser
- gnomAD X-50042405-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.24
- MetaLR 0.34
- MetaSVM -0.75
- CADD 9.16
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available