P6R (p.Pro6Arg) variant of NF1 (Neurofibromin)
P6R (p.Pro6Arg) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- rs864622210
- ClinGen CA398979224
- ClinVar RCV001776689
- ClinVar RCV001885133
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.22
- MetaLR 0.20
- MetaSVM -0.70
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)