Y30F (p.Tyr30Phe) variant of AGTRAP (Q6RW13)
Y30F (p.Tyr30Phe) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y30F (p.Tyr30Phe) variant details
- p.Tyr30Phe
- gnomAD 1-11747466-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.85
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available