T98M (p.Thr98Met) variant of ABCC6 (O95255)
T98M (p.Thr98Met) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
T98M (p.Thr98Met) variant details
- p.Thr98Met
- cosmic curated COSV99077
- gnomAD rs1466913193
- Uncertain significance
- Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of
- Missense
- Variant Prioritization Score for Impact Estimate 0.031
- REVEL 0.02
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Pseudoxanthoma elasticum, forme fruste; Arterial calcification,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available