S1403R (p.Ser1403Arg) variant of ABCC6 (O95255)
S1403R (p.Ser1403Arg) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S1403R (p.Ser1403Arg) variant details
- p.Ser1403Arg
- rs63750700
- ClinGen CA7925255
- ClinVar RCV000499150
- ESP rs63750700
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.87
- CADD 18.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)