S31P (p.Ser31Pro) variant of SPTBN2 (O15020)
S31P (p.Ser31Pro) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
S31P (p.Ser31Pro) variant details
- p.Ser31Pro
- rs373669452
- ClinGen CA6129777
- ClinVar RCV000500765
- ESP rs373669452
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.12
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)