K105E (p.Lys105Glu) variant of NPC2 (P61916)
K105E (p.Lys105Glu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K105E (p.Lys105Glu) variant details
- p.Lys105Glu
- gnomAD 14-74484465-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 21.30
- PolyPhen-2 0.13
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available