K68I (p.Lys68Ile) variant of NPC2 (P61916)
K68I (p.Lys68Ile) in NPC2 (P61916) 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 0.36 / 1. The record also includes population frequency data and structural context.
K68I (p.Lys68Ile) variant details
- p.Lys68Ile
- ExAC rs767330361
- TOPMed rs767330361
- gnomAD rs767330361
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 18.20
- PolyPhen-2 0.23
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available