C66R (p.Cys66Arg) variant of MMAA (Q8IVH4)
C66R (p.Cys66Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
C66R (p.Cys66Arg) variant details
- p.Cys66Arg
- gnomAD 4-145639335-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 23.60
- PolyPhen-2 0.11
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available