R27H (p.Arg27His) variant of MCM5 (P33992)
R27H (p.Arg27His) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- cosmic curated COSV53347
- Ensembl rs367630495
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.08
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available