P6A (p.Pro6Ala) variant of OCRL (Q01968)
P6A (p.Pro6Ala) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- TOPMed rs1390002989
- gnomAD rs1390002989
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.19
- MetaLR 0.50
- MetaSVM -0.56
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the African/African-American population (allele frequency 6.7e-05)
- Structural context available