V13M (p.Val13Met) variant of NF1 (Neurofibromin)
V13M (p.Val13Met) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- rs1060500261
- ClinGen CA16615401
- ClinVar RCV000461213
- ClinVar RCV002365591
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.11
- CADD 25.60
- PolyPhen-2 0.51
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- 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)