K112Q (p.Lys112Gln) variant of NPC2 (P61916)
K112Q (p.Lys112Gln) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K112Q (p.Lys112Gln) variant details
- p.Lys112Gln
- gnomAD 14-74484444-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available