V49V (p.Val49Val) variant of LDB3 (LIM domain-binding protein 3)
V49V (p.Val49Val) in LDB3 (LIM domain-binding protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- rs45591834
- gnomAD 10-86679420-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 9.33
- Population evidence available
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -1.05
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)