I196N (p.Ile196Asn) variant of PRPH2 (Peripherin-2)
I196N (p.Ile196Asn) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Cone-rod dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
I196N (p.Ile196Asn) variant details
- p.Ile196Asn
- rs1131691378
- ClinGen CA364135864
- ClinVar RCV000493047
- ClinVar RCV001250277
- Likely pathogenic
- not provided; Cone-rod dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.83
- MetaLR 0.02
- MetaSVM -1.16
- SIFT 0.00
- MutPred 0.55
- ClinVar: Likely pathogenic (not provided; Cone-rod dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cone rod dystrophies. (PMID 17270046)