S46Y (p.Ser46Tyr) variant of MMAA (Q8IVH4)
S46Y (p.Ser46Tyr) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S46Y (p.Ser46Tyr) variant details
- p.Ser46Tyr
- cosmic curated COSV10801
- 1000Genomes rs543412068
- ExAC rs543412068
- gnomAD rs543412068
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 3.68
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available