P14T (p.Pro14Thr) variant of SLC26A4 (Pendrin)
P14T (p.Pro14Thr) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD 7-107661681-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.45
- MetaSVM -0.53
- CADD 22.20
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available