K15N (p.Lys15Asn) variant of PRPH2 (Peripherin-2)
K15N (p.Lys15Asn) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K15N (p.Lys15Asn) variant details
- p.Lys15Asn
- rs1761920330
- ClinGen CA364138890
- ClinVar RCV001364022
- TOPMed rs1761920330
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- AlphaMissense 0.78
- MetaLR 0.03
- MetaSVM -1.11
- SIFT 0.00
- MutPred 0.81
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available