P62T (p.Pro62Thr) variant of ABCA4 (P78363)
P62T (p.Pro62Thr) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
P62T (p.Pro62Thr) variant details
- p.Pro62Thr
- rs1355238974
- ClinGen CA341285595
- ClinVar RCV001362121
- TOPMed rs1355238974
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.89
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 0.97
- SIFT 0.03
- MutPred 0.52
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available