R129K (p.Arg129Lys) variant of MAOA (P21397)
R129K (p.Arg129Lys) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R129K (p.Arg129Lys) variant details
- p.Arg129Lys
- ExAC rs745323664
- gnomAD rs745323664
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.64
- MetaLR 0.72
- MetaSVM 0.38
- CADD 18.00
- PolyPhen-2 0.22
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available