Q20P (p.Gln20Pro) variant of NF1 (Neurofibromin)
Q20P (p.Gln20Pro) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
Q20P (p.Gln20Pro) variant details
- p.Gln20Pro
- rs1598173901
- ClinGen CA398979435
- ClinVar RCV000806247
- ClinVar RCV005639213
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.58
- MetaLR 0.03
- MetaSVM -1.08
- PolyPhen-2 0.13
- SIFT 0.00
- EVE 0.41
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)