V63I (p.Val63Ile) variant of MAOA (P21397)
V63I (p.Val63Ile) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V63I (p.Val63Ile) variant details
- p.Val63Ile
- rs2033551075
- ClinGen CA413004498
- ClinVar RCV001770827
- Ensembl rs2033551075
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.48
- MetaLR 0.78
- MetaSVM 0.55
- CADD 23.40
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available