N21S (p.Asn21Ser) variant of HOGA1 (Q86XE5)
N21S (p.Asn21Ser) in HOGA1 (Q86XE5) is a missense 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.
N21S (p.Asn21Ser) variant details
- p.Asn21Ser
- gnomAD 10-97584765-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.53
- MetaSVM -0.48
- CADD 4.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available