R5S (p.Arg5Ser) variant of NF1 (Neurofibromin)
R5S (p.Arg5Ser) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- rs1567786804
- ClinGen CA398979213
- ClinVar RCV000701041
- ClinVar RCV002493226
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -1.00
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)