V78M (p.Val78Met) variant of SPTBN2 (O15020)
V78M (p.Val78Met) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V78M (p.Val78Met) variant details
- p.Val78Met
- rs149918123
- ClinGen CA6129732
- ClinVar RCV001289191
- ESP rs149918123
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.73
- CADD 25.20
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available