K61R (p.Lys61Arg) variant of MMAB (Q96EY8)
K61R (p.Lys61Arg) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K61R (p.Lys61Arg) variant details
- p.Lys61Arg
- ExAC rs767626783
- gnomAD rs767626783
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.10
- PolyPhen-2 0.07
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available