T36A (p.Thr36Ala) variant of CLCN5 (P51795)
T36A (p.Thr36Ala) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T36A (p.Thr36Ala) variant details
- p.Thr36Ala
- gnomAD X-50042405-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.29
- MetaLR 0.33
- MetaSVM -0.75
- CADD 6.31
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available