P34A (p.Pro34Ala) variant of ESR1 (Estrogen receptor)
P34A (p.Pro34Ala) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- Ensembl rs1583384726
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.53
- MetaLR 0.80
- MetaSVM 0.70
- CADD 23.20
- PolyPhen-2 0.56
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available