S46F (p.Ser46Phe) variant of MMAA (Q8IVH4)
S46F (p.Ser46Phe) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S46F (p.Ser46Phe) variant details
- p.Ser46Phe
- gnomAD 4-145639276-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.84
- PolyPhen-2 0.05
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available