Y18N (p.Tyr18Asn) variant of REEP1 (Q9H902)
Y18N (p.Tyr18Asn) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Y18N (p.Tyr18Asn) variant details
- p.Tyr18Asn
- TOPMed rs1165498276
- gnomAD rs1165498276
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.90
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available