L30L (p.Leu30Leu) variant of MYO7A (Unconventional myosin-VIIa)
L30L (p.Leu30Leu) in MYO7A (Unconventional myosin-VIIa) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs1951003260
- gnomAD 11-77138414-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 17.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available