P14P (p.Pro14Pro) variant of SLC26A4 (Pendrin)
P14P (p.Pro14Pro) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P14P (p.Pro14Pro) variant details
- p.Pro14Pro
- rs755036570
- gnomAD 7-107661683-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.40
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available