R28H (p.Arg28His) variant of ESR1 (Estrogen receptor)
R28H (p.Arg28His) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- cosmic curated COSV52789
- Ensembl rs2128155569
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.37
- MetaLR 0.45
- MetaSVM -0.40
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available