P28L (p.Pro28Leu) variant of SPTBN4 (Q9H254)
P28L (p.Pro28Leu) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs1200592638
- ClinGen CA405888254
- ClinVar RCV002744933
- ClinVar RCV004765747
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)