P23L (p.Pro23Leu) variant of MYO7A (Unconventional myosin-VIIa)
P23L (p.Pro23Leu) in MYO7A (Unconventional myosin-VIIa) 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.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs1417013483
- gnomAD 11-77138356-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 8.03
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Literature evidence available