A13V (p.Ala13Val) variant of ESR1 (Estrogen receptor)
A13V (p.Ala13Val) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- cosmic curated COSV10940
- ExAC rs767166523
- gnomAD rs767166523
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.38
- MetaLR 0.77
- MetaSVM 0.48
- CADD 22.50
- PolyPhen-2 0.44
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available