P115A (p.Pro115Ala) variant of NPC1 (O15118)
P115A (p.Pro115Ala) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P115A (p.Pro115Ala) variant details
- p.Pro115Ala
- Ensembl rs748017608
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.84
- CADD 23.90
- PolyPhen-2 0.51
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available