T7K (p.Thr7Lys) variant of NPC2 (P61916)
T7K (p.Thr7Lys) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T7K (p.Thr7Lys) variant details
- p.Thr7Lys
- TOPMed rs1363601263
- gnomAD rs1363601263
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 17.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available