P25R (p.Pro25Arg) variant of SLC26A4 (Pendrin)
P25R (p.Pro25Arg) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- rs367907345
- ClinGen CA164207235
- ClinVar RCV003068938
- ESP rs367907345
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.71
- MetaSVM 0.36
- CADD 23.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available