P98L (p.Pro98Leu) variant of NPC1 (O15118)
P98L (p.Pro98Leu) in NPC1 (O15118) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
P98L (p.Pro98Leu) variant details
- p.Pro98Leu
- rs868281893
- Ensembl rs868281893
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available