P23Q (p.Pro23Gln) variant of MYO7A (Unconventional myosin-VIIa)
P23Q (p.Pro23Gln) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- rs1050504274
- gnomAD 11-77138416-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 17.40
- Most common in the Latino/Admixed American population (allele frequency 0.00072)
- Structural context available
- Literature evidence available