A5P (p.Ala5Pro) variant of SH2B3 (SH2B adapter protein 3)
A5P (p.Ala5Pro) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- gnomAD 12-111418158-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.09
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available