M143I (p.Met143Ile) variant of ABCC9 (O60706)
M143I (p.Met143Ile) in ABCC9 (O60706) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
M143I (p.Met143Ile) variant details
- p.Met143Ile
- rs759985677
- ExAC rs759985677
- gnomAD rs759985677
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.35
- CADD 21.00
- PolyPhen-2 0.02
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available