F51L (p.Phe51Leu) variant of MCM5 (P33992)
F51L (p.Phe51Leu) in MCM5 (P33992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- rs761898056
- ClinGen CA10204910
- ClinVar RCV001988273
- ClinVar RCV004042440
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.06
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available