A36V (p.Ala36Val) variant of SH2B3 (SH2B adapter protein 3)
A36V (p.Ala36Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- 1000Genomes rs574829930
- ExAC rs574829930
- TOPMed rs574829930
- gnomAD rs574829930
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.24
- MetaSVM -0.73
- CADD 23.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available