M136V (p.Met136Val) variant of SPTBN2 (O15020)
M136V (p.Met136Val) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
M136V (p.Met136Val) variant details
- p.Met136Val
- rs150610657
- ClinGen CA6129677
- ClinVar RCV000520202
- ESP rs150610657
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.56
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00021)