D41V (p.Asp41Val) variant of OTC (P00480)
D41V (p.Asp41Val) in OTC (P00480) 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 0.85 / 1. The record also includes structural context.
D41V (p.Asp41Val) variant details
- p.Asp41Val
- rs74518351
- ClinGen CA10605721
- ClinVar RCV000324897
- Ensembl rs74518351
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.33
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available