A33T (p.Ala33Thr) variant of OCRL (Q01968)
A33T (p.Ala33Thr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- gnomAD X-129540801-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.17
- MetaLR 0.65
- MetaSVM -0.23
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available
- Literature evidence available