P47T (p.Pro47Thr) variant of CLCN5 (P51795)
P47T (p.Pro47Thr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- gnomAD X-50042438-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.45
- MetaLR 0.77
- MetaSVM 0.44
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available