K7N (p.Lys7Asn) variant of PRPH2 (Peripherin-2)
K7N (p.Lys7Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K7N (p.Lys7Asn) variant details
- p.Lys7Asn
- rs1582781191
- ClinGen CA364138944
- ClinVar RCV000998599
- ClinVar RCV002549097
- Uncertain significance
- PRPH2-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.22
- CADD 13.30
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (PRPH2-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available