P22A (p.Pro22Ala) variant of NF1 (Neurofibromin)
P22A (p.Pro22Ala) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P22A (p.Pro22Ala) variant details
- p.Pro22Ala
- rs1597625794
- ClinGen CA398988026
- ClinVar RCV001038649
- Ensembl rs1597625794
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.41
- MetaLR 0.11
- MetaSVM -0.96
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)