P62S (p.Pro62Ser) variant of ABCA4 (P78363)
P62S (p.Pro62Ser) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa; Severe early-childhood-onset retinal dystrophy; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P62S (p.Pro62Ser) variant details
- p.Pro62Ser
- rs1355238974
- ClinGen CA341285594
- ClinVar RCV001352982
- ClinVar RCV003490217
- Likely pathogenic
- Retinitis pigmentosa; Severe early-childhood-onset retinal dystrophy; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.91
- AlphaMissense 0.89
- MetaLR 0.93
- MetaSVM 1.05
- CADD 25.90
- PolyPhen-2 0.97
- ClinVar: Likely pathogenic (Retinitis pigmentosa; Severe early-childhood-onset retinal dystr)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:ORCADIAN population (allele frequency 0.071)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)