V31I (p.Val31Ile) variant of MAOB (P27338)
V31I (p.Val31Ile) in MAOB (P27338) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
V31I (p.Val31Ile) variant details
- p.Val31Ile
- rs189979184
- ClinGen CA10391365
- ClinVar RCV004226697
- 1000Genomes rs189979184
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.098
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.03
- CADD 7.90
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.013)
- Structural context available