H46Q (p.His46Gln) variant of MYO7A (Unconventional myosin-VIIa)
H46Q (p.His46Gln) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H46Q (p.His46Gln) variant details
- p.His46Gln
- gnomAD rs1555054593
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.16
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available