N98K (p.Asn98Lys) variant of NPC2 (P61916)
N98K (p.Asn98Lys) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N98K (p.Asn98Lys) variant details
- p.Asn98Lys
- gnomAD 14-74484484-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.85
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available