S50F (p.Ser50Phe) variant of AGTRAP (Q6RW13)
S50F (p.Ser50Phe) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- ExAC rs771850377
- gnomAD rs771850377
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.40
- MetaSVM -0.16
- CADD 25.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available