L78F (p.Leu78Phe) variant of MMAA (Q8IVH4)
L78F (p.Leu78Phe) in MMAA (Q8IVH4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
L78F (p.Leu78Phe) variant details
- p.Leu78Phe
- NCI-TCGA Cosmic COSV5557
- cosmic curated COSV55579
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- ESM-1b 0.30
- AlphaMissense 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available