P4L (p.Pro4Leu) variant of SH2B3 (SH2B adapter protein 3)
P4L (p.Pro4Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- gnomAD 12-111418156-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.03
- CADD 21.30
- PolyPhen-2 0.28
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available