F85V (p.Phe85Val) variant of MMAA (Q8IVH4)
F85V (p.Phe85Val) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
F85V (p.Phe85Val) variant details
- p.Phe85Val
- gnomAD 4-145639392-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available