C23Y (p.Cys23Tyr) variant of MMAA (Q8IVH4)
C23Y (p.Cys23Tyr) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- ESP rs370709347
- TOPMed rs370709347
- gnomAD rs370709347
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 4.09
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available