N98N (p.Asn98Asn) variant of NPC2 (P61916)
N98N (p.Asn98Asn) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
N98N (p.Asn98Asn) variant details
- p.Asn98Asn
- rs1192101137
- gnomAD 14-74484484-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 9.52
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available