K105N (p.Lys105Asn) variant of NPC2 (P61916)
K105N (p.Lys105Asn) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K105N (p.Lys105Asn) variant details
- p.Lys105Asn
- gnomAD rs1220089148
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 22.10
- PolyPhen-2 0.11
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available