R168H (p.Arg168His) variant of RAD21 (O60216)
R168H (p.Arg168His) in RAD21 (O60216) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
R168H (p.Arg168His) variant details
- p.Arg168His
- rs772999578
- NCI-TCGA Cosmic COSV5206
- ExAC rs772999578
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)