C40R (p.Cys40Arg) variant of MMAA (Q8IVH4)
C40R (p.Cys40Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
C40R (p.Cys40Arg) variant details
- p.Cys40Arg
- ExAC rs745735153
- TOPMed rs745735153
- gnomAD rs745735153
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.75
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available