L4I (p.Leu4Ile) variant of MYO7A (Unconventional myosin-VIIa)
L4I (p.Leu4Ile) in MYO7A (Unconventional myosin-VIIa) 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 0.37 / 1. The record also includes population frequency data and structural context.
L4I (p.Leu4Ile) variant details
- p.Leu4Ile
- NCI-TCGA Cosmic COSV5369
- cosmic curated COSV53691
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.19
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available