C47R (p.Cys47Arg) variant of NPC2 (P61916)
C47R (p.Cys47Arg) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
C47R (p.Cys47Arg) variant details
- p.Cys47Arg
- Ensembl rs2139670135
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available