K32N (p.Lys32Asn) variant of ESR1 (Estrogen receptor)
K32N (p.Lys32Asn) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K32N (p.Lys32Asn) variant details
- p.Lys32Asn
- ExAC rs200924028
- gnomAD rs200924028
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.53
- MetaLR 0.86
- MetaSVM 0.74
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available