P25P (p.Pro25Pro) variant of SLC26A4 (Pendrin)
P25P (p.Pro25Pro) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P25P (p.Pro25Pro) variant details
- p.Pro25Pro
- rs570668954
- gnomAD 7-107661716-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 16.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available