P10L (p.Pro10Leu) variant of SLC26A4 (Pendrin)
P10L (p.Pro10Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- gnomAD rs1210122616
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.45
- MetaSVM -0.55
- CADD 19.60
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available