P23T (p.Pro23Thr) variant of MYO7A (Unconventional myosin-VIIa)
P23T (p.Pro23Thr) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- rs2135564428
- gnomAD 11-77138328-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 3.29
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- Structural context available
- Literature evidence available