K139M (p.Lys139Met) variant of ETFA (P13804)
K139M (p.Lys139Met) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
K139M (p.Lys139Met) variant details
- p.Lys139Met
- gnomAD rs1468270929
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 28.80
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available