D31N (p.Asp31Asn) variant of REEP1 (Q9H902)
D31N (p.Asp31Asn) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- cosmic curated COSV10455
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.38
- CADD 20.90
- PolyPhen-2 0.52
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available