P25A (p.Pro25Ala) variant of ESR1 (Estrogen receptor)
P25A (p.Pro25Ala) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P25A (p.Pro25Ala) variant details
- p.Pro25Ala
- gnomAD 6-151807985-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.11
- MetaLR 0.36
- MetaSVM -0.53
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available