Y42N (p.Tyr42Asn) variant of MCM5 (P33992)
Y42N (p.Tyr42Asn) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Y42N (p.Tyr42Asn) variant details
- p.Tyr42Asn
- gnomAD 22-35400562-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.30
- CADD 32.00
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available