F938S (p.Phe938Ser) variant of ABCA4 (P78363)
F938S (p.Phe938Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Retinal dystrophy; Cone-rod dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F938S (p.Phe938Ser) variant details
- p.Phe938Ser
- rs149071415
- ClinGen CA958148
- ClinVar RCV000504891
- ClinVar RCV001047033
- Pathogenic/Likely pathogenic
- not provided; Retinal dystrophy; Cone-rod dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.88
- MetaLR 0.88
- MetaSVM 1.03
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinal dystrophy; Cone-rod dystrophy 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)