V10I (p.Val10Ile) variant of NF1 (Neurofibromin)
V10I (p.Val10Ile) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs2544511291
- ClinGen CA398979274
- ClinVar RCV003495997
- Uncertain significance
- Neurofibromatosis, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.07
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Neurofibromatosis, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 17636453)