G15D (p.Gly15Asp) variant of MMAA (Q8IVH4)
G15D (p.Gly15Asp) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- ESP rs371810384
- ExAC rs371810384
- TOPMed rs371810384
- gnomAD rs371810384
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.10
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available