M11V (p.Met11Val) variant of SPTBN4 (Q9H254)
M11V (p.Met11Val) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M11V (p.Met11Val) variant details
- p.Met11Val
- ESP rs376008345
- ExAC rs376008345
- TOPMed rs376008345
- gnomAD rs376008345
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 14.20
- PolyPhen-2 0.04
- SIFT 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available