A14S (p.Ala14Ser) variant of SH2B3 (SH2B adapter protein 3)
A14S (p.Ala14Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 12-111418185-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.06
- CADD 0.58
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available