T31N (p.Thr31Asn) variant of OCRL (Q01968)
T31N (p.Thr31Asn) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T31N (p.Thr31Asn) variant details
- p.Thr31Asn
- gnomAD X-129540796-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.14
- MetaLR 0.60
- MetaSVM 0.06
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available