S100P (p.Ser100Pro) variant of ABCA4 (P78363)
S100P (p.Ser100Pro) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S100P (p.Ser100Pro) variant details
- p.Ser100Pro
- rs61748530
- ClinGen CA227065
- ClinVar RCV000085534
- ClinVar RCV001074423
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.76
- MetaLR 0.33
- MetaSVM -0.20
- CADD 29.10
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided)
- EBI: Pathogenic (in STGD1)
- UniProt: Pathogenic (in STGD1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: An analysis of allelic variation in the ABCA4 gene. (PMID 11328725)
- Cited in: Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4… (PMID 24097981)