P6S (p.Pro6Ser) variant of NF1 (Neurofibromin)
P6S (p.Pro6Ser) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs1567786812
- ClinGen CA398979220
- ClinVar RCV000757565
- ClinVar RCV005092175
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.16
- MetaLR 0.18
- MetaSVM -0.86
- CADD 25.50
- PolyPhen-2 1.00
- 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)