P22S (p.Pro22Ser) variant of NF1 (Neurofibromin)
P22S (p.Pro22Ser) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- rs1597625794
- ClinGen CA398988030
- cosmic curated COSV62206
- ClinVar RCV000989777
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- MetaLR 0.11
- MetaSVM -0.96
- CADD 23.10
- PolyPhen-2 0.07
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- 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)