A13T (p.Ala13Thr) variant of ESR1 (Estrogen receptor)
A13T (p.Ala13Thr) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- cosmic curated COSV52802
- ExAC rs761420991
- TOPMed rs761420991
- gnomAD rs761420991
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.19
- MetaLR 0.53
- MetaSVM -0.22
- CADD 19.20
- PolyPhen-2 0.04
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available