L31P (p.Leu31Pro) variant of ESR1 (Estrogen receptor)
L31P (p.Leu31Pro) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- cosmic curated COSV52800
- ExAC rs752794477
- gnomAD rs752794477
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.69
- MetaLR 0.83
- MetaSVM 0.77
- CADD 26.80
- PolyPhen-2 0.85
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available