F30S (p.Phe30Ser) variant of ATM (Serine-protein kinase ATM)
F30S (p.Phe30Ser) in ATM (Serine-protein kinase ATM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F30S (p.Phe30Ser) variant details
- p.Phe30Ser
- gnomAD 11-108227792-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- MetaLR 0.38
- MetaSVM -0.23
- CADD 28.30
- PolyPhen-2 0.46
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available