P48T (p.Pro48Thr) variant of CLCN5 (P51795)
P48T (p.Pro48Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P48T (p.Pro48Thr) variant details
- p.Pro48Thr
- gnomAD X-50042441-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.46
- MetaLR 0.78
- MetaSVM 0.48
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available