L30F (p.Leu30Phe) variant of SLC26A4 (Pendrin)
L30F (p.Leu30Phe) in SLC26A4 (Pendrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM 0.19
- CADD 23.80
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available