K94E (p.Lys94Glu) variant of NPC2 (P61916)
K94E (p.Lys94Glu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
K94E (p.Lys94Glu) variant details
- p.Lys94Glu
- gnomAD 14-74484498-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 28.50
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available