N21K (p.Asn21Lys) variant of ESR1 (Estrogen receptor)
N21K (p.Asn21Lys) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N21K (p.Asn21Lys) variant details
- p.Asn21Lys
- ExAC rs759639731
- TOPMed rs759639731
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.13
- MetaLR 0.51
- MetaSVM -0.19
- CADD 15.70
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available