I42V (p.Ile42Val) variant of OCRL (Q01968)
I42V (p.Ile42Val) in OCRL (Q01968) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- rs797045842
- ClinGen CA209458
- ClinVar RCV000194950
- Ensembl rs797045842
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.25
- MetaLR 0.54
- MetaSVM -0.14
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available