N43S (p.Asn43Ser) variant of REL (Proto-oncogene c-Rel)
N43S (p.Asn43Ser) in REL (Proto-oncogene c-Rel) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- rs2466180897
- ClinGen CA347041532
- ClinVar RCV003037507
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.08
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available