N36S (p.Asn36Ser) variant of OCRL (Q01968)
N36S (p.Asn36Ser) 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 and structural context.
N36S (p.Asn36Ser) variant details
- p.Asn36Ser
- gnomAD rs1280312755
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.15
- MetaLR 0.48
- MetaSVM -0.60
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available