L65del (p.Leu65del) variant of MMAA (Q8IVH4)
L65del (p.Leu65del) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L65del (p.Leu65del) variant details
- rs758827870
- gnomAD 4-145639330-AATT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 17.50
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available