F12V (p.Phe12Val) variant of MMAA (Q8IVH4)
F12V (p.Phe12Val) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F12V (p.Phe12Val) variant details
- p.Phe12Val
- ExAC rs757224297
- gnomAD rs757224297
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available