P50S (p.Pro50Ser) variant of MYO7A (Unconventional myosin-VIIa)
P50S (p.Pro50Ser) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- gnomAD 11-77147813-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.26
- CADD 23.50
- PolyPhen-2 0.78
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available