F44C (p.Phe44Cys) variant of MMAA (Q8IVH4)
F44C (p.Phe44Cys) 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.
F44C (p.Phe44Cys) variant details
- p.Phe44Cys
- gnomAD 4-145639270-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.35
- PolyPhen-2 0.17
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available