S48P (p.Ser48Pro) variant of MECOM (Q03112)
S48P (p.Ser48Pro) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
S48P (p.Ser48Pro) variant details
- p.Ser48Pro
- rs760262585
- ClinGen CA2696717
- ClinVar RCV003887298
- ExAC rs760262585
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 23.60
- PolyPhen-2 0.69
- SIFT 0.05
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available