N111I (p.Asn111Ile) variant of NPC2 (P61916)
N111I (p.Asn111Ile) in NPC2 (P61916) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N111I (p.Asn111Ile) variant details
- p.Asn111Ile
- rs80358265
- gnomAD 14-74484445-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 29.40
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)
- Cited in: Identification of HE1 as the second gene of Niemann-Pick C disease. (PMID 11125141)