L30V (p.Leu30Val) variant of SLC26A4 (Pendrin)
L30V (p.Leu30Val) 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 and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- gnomAD rs1183206000
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.56
- MetaSVM -0.15
- CADD 21.80
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available