N64H (p.Asn64His) variant of MCM5 (P33992)
N64H (p.Asn64His) in MCM5 (P33992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N64H (p.Asn64His) variant details
- p.Asn64His
- rs1180611774
- ClinGen CA411358955
- cosmic curated COSV99331
- ClinVar RCV003546893
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.15
- MetaLR 0.04
- MetaSVM -1.09
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available