P47T (p.Pro47Thr) variant of NPC1 (O15118)
P47T (p.Pro47Thr) in NPC1 (O15118) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- gnomAD 18-23529714-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 15.20
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available