C51W (p.Cys51Trp) variant of MMAA (Q8IVH4)
C51W (p.Cys51Trp) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
C51W (p.Cys51Trp) variant details
- p.Cys51Trp
- ExAC rs773779122
- gnomAD rs773779122
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 17.00
- PolyPhen-2 0.16
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available