K94N (p.Lys94Asn) variant of NPC2 (P61916)
K94N (p.Lys94Asn) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K94N (p.Lys94Asn) variant details
- p.Lys94Asn
- gnomAD 14-74484496-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available