V35L (p.Val35Leu) variant of SH2B3 (SH2B adapter protein 3)
V35L (p.Val35Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- rs758024019
- ClinGen CA386717871
- ClinVar RCV002855993
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.05
- CADD 17.80
- PolyPhen-2 0.11
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)