S1403I (p.Ser1403Ile) variant of ABCC6 (O95255)
S1403I (p.Ser1403Ile) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
S1403I (p.Ser1403Ile) variant details
- p.Ser1403Ile
- NCI-TCGA Cosmic COSV5274
- NCI-TCGA Cosmic COSV9922
- cosmic curated COSV99228
- Uncertain significance
- Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.92
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxa)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available