P14L (p.Pro14Leu) variant of SLC26A4 (Pendrin)
P14L (p.Pro14Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD 7-107661682-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.56
- MetaSVM -0.17
- CADD 22.60
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Literature evidence available