P14A (p.Pro14Ala) variant of SLC26A4 (Pendrin)
P14A (p.Pro14Ala) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- gnomAD 7-107661681-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.32
- MetaSVM -0.66
- CADD 18.70
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available