P34T (p.Pro34Thr) variant of CLCN5 (P51795)
P34T (p.Pro34Thr) 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 and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- Ensembl rs1932255194
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.11
- MetaLR 0.37
- MetaSVM -0.77
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available