A20P (p.Ala20Pro) variant of ATM (Serine-protein kinase ATM)
A20P (p.Ala20Pro) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- Ensembl rs1555053946
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.21
- MetaLR 0.34
- MetaSVM -0.42
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available