M44I (p.Met44Ile) variant of ABCC4 (O15439)
M44I (p.Met44Ile) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
M44I (p.Met44Ile) variant details
- p.Met44Ile
- rs1334678519
- ClinGen CA388403405
- ClinVar RCV004320496
- gnomAD rs1334678519
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 21.80
- PolyPhen-2 0.07
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)