A18T (p.Ala18Thr) variant of NPC1 (O15118)
A18T (p.Ala18Thr) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- TOPMed rs1337785844
- gnomAD rs1337785844
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.34
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available