P14R (p.Pro14Arg) variant of SLC26A4 (Pendrin)
P14R (p.Pro14Arg) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- TOPMed rs1478571726
- gnomAD rs1478571726
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.20
- CADD 23.40
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available