S33C (p.Ser33Cys) variant of MYO7A (Unconventional myosin-VIIa)
S33C (p.Ser33Cys) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S33C (p.Ser33Cys) variant details
- p.Ser33Cys
- gnomAD 11-77142788-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.73
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available