P6T (p.Pro6Thr) variant of OCRL (Q01968)
P6T (p.Pro6Thr) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD X-129540455-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.14
- MetaLR 0.57
- MetaSVM -0.25
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available