S33F (p.Ser33Phe) variant of MYO7A (Unconventional myosin-VIIa)
S33F (p.Ser33Phe) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
S33F (p.Ser33Phe) variant details
- p.Ser33Phe
- Ensembl rs1565310188
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available