A40V (p.Ala40Val) variant of SPTBN2 (O15020)
A40V (p.Ala40Val) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- cosmic curated COSV10001
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance