K63N (p.Lys63Asn) variant of HOGA1 (Q86XE5)
K63N (p.Lys63Asn) in HOGA1 (Q86XE5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K63N (p.Lys63Asn) variant details
- p.Lys63Asn
- rs1247079002
- gnomAD 10-97584889-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 27.90
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available