A9T (p.Ala9Thr) variant of OCRL (Q01968)
A9T (p.Ala9Thr) in OCRL (Q01968) 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 0.49 / 1. The record also includes structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs1064796554
- ClinGen CA16621196
- ClinVar RCV000482529
- Ensembl rs1064796554
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.13
- MetaLR 0.57
- MetaSVM -0.38
- PolyPhen-2 0.07
- SIFT 0.17
- MutPred 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available