D180H (p.Asp180His) variant of RAD21 (O60216)
D180H (p.Asp180His) in RAD21 (O60216) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
D180H (p.Asp180His) variant details
- p.Asp180His
- Ensembl rs1812492159
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.20
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)