M25V (p.Met25Val) variant of LDB3 (LIM domain-binding protein 3)
M25V (p.Met25Val) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M25V (p.Met25Val) variant details
- p.Met25Val
- gnomAD 10-86668764-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.31
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.0707
- Literature evidence available