C51R (p.Cys51Arg) variant of MMAA (Q8IVH4)
C51R (p.Cys51Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- ExAC rs748557981
- gnomAD rs748557981
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available