M21L (p.Met21Leu) variant of SLC26A4 (Pendrin)
M21L (p.Met21Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M21L (p.Met21Leu) variant details
- p.Met21Leu
- gnomAD 7-107661702-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.74
- CADD 16.40
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available