T2I (p.Thr2Ile) variant of NPC1 (O15118)
T2I (p.Thr2Ile) in NPC1 (O15118) is a missense change. 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.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- TOPMed rs1390525954
- gnomAD rs1390525954
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.25
- CADD 6.04
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available