V129A (p.Val129Ala) variant of RAD21 (O60216)
V129A (p.Val129Ala) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RAD21-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
V129A (p.Val129Ala) variant details
- p.Val129Ala
- rs1812516812
- ClinGen CA372008382
- ClinVar RCV003404637
- Ensembl rs1812516812
- Uncertain significance
- RAD21-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.21
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (RAD21-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)