P29A (p.Pro29Ala) variant of ESR1 (Estrogen receptor)
P29A (p.Pro29Ala) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- Ensembl rs2128155577
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.31
- MetaLR 0.52
- MetaSVM 0.02
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available