N36K (p.Asn36Lys) variant of OCRL (Q01968)
N36K (p.Asn36Lys) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N36K (p.Asn36Lys) variant details
- p.Asn36Lys
- gnomAD rs1282233549
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.16
- MetaLR 0.54
- MetaSVM -0.33
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available