C40Y (p.Cys40Tyr) variant of MMAA (Q8IVH4)
C40Y (p.Cys40Tyr) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C40Y (p.Cys40Tyr) variant details
- p.Cys40Tyr
- gnomAD 4-145639258-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.74
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available