N45L (p.Asn45Leu) variant of MMAA (Q8IVH4)
N45L (p.Asn45Leu) in MMAA (Q8IVH4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N45L (p.Asn45Leu) variant details
- p.Asn45Leu
- gnomAD 4-145639269-TTTAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available