V110M (p.Val110Met) variant of ABCC6 (O95255)
V110M (p.Val110Met) 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 0.27 / 1. The record also includes population frequency data and structural context.
V110M (p.Val110Met) variant details
- p.Val110Met
- gnomAD rs2049015185
- Uncertain significance
- Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.07
- CADD 19.80
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (Pseudoxanthoma elasticum, forme fruste; Arterial calcification,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available