Q48P (p.Gln48Pro) variant of NPC2 (P61916)
Q48P (p.Gln48Pro) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q48P (p.Gln48Pro) variant details
- p.Gln48Pro
- TOPMed rs1469718807
- gnomAD rs1469718807
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available