K105D (p.Lys105Asp) variant of NPC2 (P61916)
K105D (p.Lys105Asp) in NPC2 (P61916) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K105D (p.Lys105Asp) variant details
- p.Lys105Asp
- gnomAD 14-74484463-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 27.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available