L6V (p.Leu6Val) variant of SH2B3 (SH2B adapter protein 3)
L6V (p.Leu6Val) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- ExAC rs760432654
- gnomAD rs760432654
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.03
- CADD 9.28
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available