C40G (p.Cys40Gly) variant of MMAA (Q8IVH4)
C40G (p.Cys40Gly) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
C40G (p.Cys40Gly) variant details
- p.Cys40Gly
- gnomAD 4-145639257-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 2.76
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available