S36N (p.Ser36Asn) variant of LDB3 (LIM domain-binding protein 3)
S36N (p.Ser36Asn) in LDB3 (LIM domain-binding protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S36N (p.Ser36Asn) variant details
- p.Ser36Asn
- gnomAD 10-86679380-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.46
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- LDB3 PDZ domain domainome 1.0: score -0.417
- Literature evidence available