N435K (p.Asn435Lys) variant of GBA1 (P04062)
N435K (p.Asn435Lys) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
N435K (p.Asn435Lys) variant details
- p.Asn435Lys
- ExAC rs778798290
- TOPMed rs778798290
- gnomAD rs778798290
- NCI-TCGA Cosmic COSV1005
- Uncertain significance
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.86
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Gaucher disease)
- EBI: Likely benign (in GD1)
- UniProt: Likely benign (in GD1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available