H31D (p.His31Asp) variant of NF1 (Neurofibromin)
H31D (p.His31Asp) in NF1 (Neurofibromin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in NF1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
H31D (p.His31Asp) variant details
- p.His31Asp
- rs786202864
- ClinGen CA398988181
- ClinVar RCV001046801
- gnomAD rs786202864
- Likely benign
- in NF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.36
- MetaLR 0.09
- MetaSVM -1.09
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.29
- EBI: Likely benign (in NF1)
- UniProt: Likely benign (in NF1)
- 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)