E53A (p.Glu53Ala) variant of PTH (Parathyroid hormone)
E53A (p.Glu53Ala) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- gnomAD 11-13492595-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.30
- MetaLR 0.44
- MetaSVM -0.38
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available