L30P (p.Leu30Pro) variant of SLC26A4 (Pendrin)
L30P (p.Leu30Pro) 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 and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- 1000Genomes rs546827860
- TOPMed rs546827860
- gnomAD rs546827860
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.42
- MetaSVM -0.47
- CADD 23.10
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available