C51Y (p.Cys51Tyr) variant of MMAA (Q8IVH4)
C51Y (p.Cys51Tyr) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C51Y (p.Cys51Tyr) variant details
- p.Cys51Tyr
- ExAC rs769983308
- gnomAD rs769983308
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available