Q23R (p.Gln23Arg) variant of NPC2 (P61916)
Q23R (p.Gln23Arg) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- ExAC rs770988699
- gnomAD rs770988699
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 3.23
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available