I25S (p.Ile25Ser) variant of RAD51D (O75771)
I25S (p.Ile25Ser) in RAD51D (O75771) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I25S (p.Ile25Ser) variant details
- p.Ile25Ser
- gnomAD rs2091797279
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.28
- CADD 28.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available