S38R (p.Ser38Arg) variant of TUBA1A (Tubulin alpha-1A chain)
S38R (p.Ser38Arg) in TUBA1A (Tubulin alpha-1A chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Lissencephaly due to TUBA1A mutation. The record also includes variant effect predictions and structural context.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- cosmic curated COSV55497
- Uncertain significance
- Lissencephaly due to TUBA1A mutation
- Missense
- SIFT 0.15
- ClinVar: Uncertain significance (Lissencephaly due to TUBA1A mutation)
- UniProt: Uncertain significance
- Structural context available