Y42F (p.Tyr42Phe) variant of CD28 (P10747)
Y42F (p.Tyr42Phe) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y42F (p.Tyr42Phe) variant details
- p.Tyr42Phe
- ExAC rs758484234
- gnomAD rs758484234
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.52
- MetaLR 0.45
- MetaSVM -0.14
- CADD 23.70
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available