V44G (p.Val44Gly) variant of MCM5 (P33992)
V44G (p.Val44Gly) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V44G (p.Val44Gly) variant details
- p.Val44Gly
- gnomAD rs1932012907
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.18
- MetaLR 0.02
- MetaSVM -0.99
- CADD 23.20
- SIFT 0.38
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available