E137K (p.Glu137Lys) variant of MMAB (Q96EY8)
E137K (p.Glu137Lys) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E137K (p.Glu137Lys) variant details
- p.Glu137Lys
- ExAC rs775783529
- gnomAD rs775783529
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available