N21D (p.Asn21Asp) variant of ESR1 (Estrogen receptor)
N21D (p.Asn21Asp) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N21D (p.Asn21Asp) variant details
- p.Asn21Asp
- TOPMed rs1778149215
- gnomAD rs1778149215
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.12
- MetaLR 0.45
- MetaSVM -0.31
- CADD 16.10
- PolyPhen-2 0.05
- SIFT 0.16
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available