Y30C (p.Tyr30Cys) variant of AGTRAP (Q6RW13)
Y30C (p.Tyr30Cys) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- cosmic curated COSV10519
- ExAC rs772533948
- gnomAD rs772533948
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.43
- MetaSVM -0.09
- CADD 25.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available