K61Q (p.Lys61Gln) variant of MMAB (Q96EY8)
K61Q (p.Lys61Gln) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
K61Q (p.Lys61Gln) variant details
- p.Lys61Gln
- gnomAD rs1409198400
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 28.40
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available