P58T (p.Pro58Thr) variant of CLCN1 (Chloride channel protein 1)
P58T (p.Pro58Thr) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P58T (p.Pro58Thr) variant details
- p.Pro58Thr
- gnomAD 7-143316384-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.36
- CADD 18.70
- PolyPhen-2 0.33
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available