L6R (p.Leu6Arg) variant of SH2B3 (SH2B adapter protein 3)
L6R (p.Leu6Arg) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L6R (p.Leu6Arg) variant details
- p.Leu6Arg
- gnomAD 12-111418162-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.07
- CADD 21.90
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available