N62K (p.Asn62Lys) variant of PRPH2 (Peripherin-2)
N62K (p.Asn62Lys) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N62K (p.Asn62Lys) variant details
- p.Asn62Lys
- rs755239769
- NCI-TCGA Cosmic COSV1000
- ExAC rs755239769
- TOPMed rs755239769
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.48
- CADD 23.00
- PolyPhen-2 0.91
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available