P3T (p.Pro3Thr) variant of OCRL (Q01968)
P3T (p.Pro3Thr) 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 and structural context.
P3T (p.Pro3Thr) variant details
- p.Pro3Thr
- gnomAD rs1317886827
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.21
- MetaLR 0.60
- MetaSVM -0.23
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available