I14V (p.Ile14Val) variant of CD28 (P10747)
I14V (p.Ile14Val) in CD28 (P10747) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- 1000Genomes rs146720297
- ESP rs146720297
- ExAC rs146720297
- TOPMed rs146720297
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.17
- MetaLR 0.24
- MetaSVM -0.93
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available