C51F (p.Cys51Phe) variant of MMAA (Q8IVH4)
C51F (p.Cys51Phe) 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, published literature, and structural context.
C51F (p.Cys51Phe) variant details
- p.Cys51Phe
- gnomAD 4-145639291-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available