K38N (p.Lys38Asn) variant of OTC (P00480)
K38N (p.Lys38Asn) in OTC (P00480) 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 0.53 / 1. The record also includes population frequency data and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- gnomAD rs1057522000
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.58
- MetaLR 0.85
- MetaSVM 0.64
- CADD 23.60
- PolyPhen-2 0.65
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available