G34P (p.Gly34Pro) variant of MYO7A (Unconventional myosin-VIIa)
G34P (p.Gly34Pro) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
G34P (p.Gly34Pro) variant details
- p.Gly34Pro
- rs1476080508
- gnomAD 11-77138404-A-ACG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.45
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available