P10S (p.Pro10Ser) variant of SLC26A4 (Pendrin)
P10S (p.Pro10Ser) in SLC26A4 (Pendrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- 1000Genomes rs200102493
- ESP rs200102493
- ExAC rs200102493
- TOPMed rs200102493
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.48
- CADD 21.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available