P48S (p.Pro48Ser) variant of CLCN5 (P51795)
P48S (p.Pro48Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- ESP rs375788993
- ExAC rs375788993
- TOPMed rs375788993
- gnomAD rs375788993
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.44
- MetaLR 0.76
- MetaSVM 0.43
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.70
- Most common in the African/African-American population (allele frequency 9.8e-05)
- Structural context available