I86V (p.Ile86Val) variant of MAOA (P21397)
I86V (p.Ile86Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
I86V (p.Ile86Val) variant details
- p.Ile86Val
- rs780148935
- ClinGen CA413004649
- ClinVar RCV003223810
- ExAC rs780148935
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.91
- CADD 0.54
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available