L30I (p.Leu30Ile) variant of SLC26A4 (Pendrin)
L30I (p.Leu30Ile) 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, published literature, and structural context.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- gnomAD 7-107661729-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.61
- MetaSVM -0.01
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available