C31W (p.Cys31Trp) variant of MYO7A (Unconventional myosin-VIIa)
C31W (p.Cys31Trp) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C31W (p.Cys31Trp) variant details
- p.Cys31Trp
- gnomAD 11-77142783-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.64
- CADD 16.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available
- Literature evidence available