P29S (p.Pro29Ser) variant of ESR1 (Estrogen receptor)
P29S (p.Pro29Ser) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- Ensembl rs2128155577
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- MetaLR 0.49
- MetaSVM -0.13
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available