M12L (p.Met12Leu) variant of ESR1 (Estrogen receptor)
M12L (p.Met12Leu) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
M12L (p.Met12Leu) variant details
- p.Met12Leu
- Ensembl rs2128155287
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.16
- MetaLR 0.24
- MetaSVM -0.70
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available