G15R (p.Gly15Arg) variant of MMAA (Q8IVH4)
G15R (p.Gly15Arg) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G15R (p.Gly15Arg) variant details
- p.Gly15Arg
- Ensembl rs893538330
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available