L54R (p.Leu54Arg) variant of ITGA6 (Integrin alpha-6)
L54R (p.Leu54Arg) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L54R (p.Leu54Arg) variant details
- p.Leu54Arg
- gnomAD rs1301054995
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 29.70
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available