K112N (p.Lys112Asn) variant of NPC2 (P61916)
K112N (p.Lys112Asn) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K112N (p.Lys112Asn) variant details
- p.Lys112Asn
- gnomAD 14-74484442-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 23.90
- PolyPhen-2 0.64
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available