R31R (p.Arg31Arg) variant of LDB3 (LIM domain-binding protein 3)
R31R (p.Arg31Arg) in LDB3 (LIM domain-binding protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R31R (p.Arg31Arg) variant details
- p.Arg31Arg
- rs1564626245
- gnomAD 10-86668784-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 24.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score 0.0075
- Literature evidence available