S25P (p.Ser25Pro) variant of CLCN5 (P51795)
S25P (p.Ser25Pro) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S25P (p.Ser25Pro) variant details
- p.Ser25Pro
- TOPMed rs1193230721
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.24
- MetaLR 0.55
- MetaSVM -0.28
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available