M21T (p.Met21Thr) variant of SLC26A4 (Pendrin)
M21T (p.Met21Thr) 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.
M21T (p.Met21Thr) variant details
- p.Met21Thr
- gnomAD 7-107661703-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.37
- MetaSVM -0.75
- CADD 16.60
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available