P25L (p.Pro25Leu) variant of SLC26A4 (Pendrin)
P25L (p.Pro25Leu) 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 0.68 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- ESP rs367907345
- ExAC rs367907345
- TOPMed rs367907345
- gnomAD rs367907345
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.82
- MetaSVM 0.76
- CADD 26.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available