S12A (p.Ser12Ala) variant of SH2B3 (SH2B adapter protein 3)
S12A (p.Ser12Ala) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S12A (p.Ser12Ala) variant details
- p.Ser12Ala
- gnomAD 12-111418179-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0859
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -0.98
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available