T7I (p.Thr7Ile) variant of NPC2 (P61916)
T7I (p.Thr7Ile) in NPC2 (P61916) is a missense change. 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.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- TOPMed rs1363601263
- gnomAD rs1363601263
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.70
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available