W74R (p.Trp74Arg) variant of APOA1 (Apolipoprotein A-I)
W74R (p.Trp74Arg) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
W74R (p.Trp74Arg) variant details
- p.Trp74Arg
- rs121912726
- ClinGen CA127577
- ClinVar RCV003556051
- ClinVar RCV004555842
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.84
- MetaLR 0.48
- MetaSVM -0.48
- PolyPhen-2 0.97
- SIFT 0.02
- EVE 0.81
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. (PMID 8675681)