P640S (p.Pro640Ser) variant of ABCA4 (P78363)
P640S (p.Pro640Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy 3; Retinitis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P640S (p.Pro640Ser) variant details
- p.Pro640Ser
- rs766570903
- ClinGen CA341279254
- ClinVar RCV003054250
- Likely pathogenic
- Severe early-childhood-onset retinal dystrophy; Cone-rod dystrophy 3; Retinitis
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.89
- MetaLR 0.85
- MetaSVM 0.93
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe early-childhood-onset retinal dystrophy; Cone-rod dystrop)
- EBI: Likely pathogenic (in STGD1)
- UniProt: Likely pathogenic (in STGD1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available