P98T (p.Pro98Thr) variant of NPC1 (O15118)
P98T (p.Pro98Thr) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P98T (p.Pro98Thr) variant details
- p.Pro98Thr
- TOPMed rs1464167842
- gnomAD rs1464167842
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.96
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available