M162T (p.Met162Thr) variant of GBA1 (P04062)
M162T (p.Met162Thr) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M162T (p.Met162Thr) variant details
- p.Met162Thr
- rs794727783
- ClinGen CA246603
- cosmic curated COSV59169
- ClinVar RCV000179352
- Conflicting interpretations
- not provided; Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.92
- AlphaMissense 0.85
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Gaucher disease)
- EBI: Pathogenic (in GD)
- UniProt: Pathogenic (in GD)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)