A6D (p.Ala6Asp) variant of NF2 (Merlin)
A6D (p.Ala6Asp) in NF2 (Merlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neurofibromatosis, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- rs2064713500
- ClinGen CA411145761
- ClinVar RCV001222566
- Ensembl rs2064713500
- Uncertain significance
- Neurofibromatosis, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.49
- CADD 24.50
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Neurofibromatosis, type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: NF2-Related Schwannomatosis. (PMID 20301380)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)