A100V (p.Ala100Val) variant of PROS1 (Vitamin K-dependent protein S)
A100V (p.Ala100Val) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- NCI-TCGA Cosmic COSV6239
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance