I33T (p.Ile33Thr) variant of NPC1 (O15118)
I33T (p.Ile33Thr) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- gnomAD rs1360183867
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.25
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available