D100V (p.Asp100Val) variant of ATP6V1A (P38606)
D100V (p.Asp100Val) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy 93; Autosomal recessive cutis laxa ty. The record also includes structural context.
D100V (p.Asp100Val) variant details
- p.Asp100Val
- rs2549719217
- ClinGen CA354007665
- ClinVar RCV003389392
- Likely pathogenic
- Developmental and epileptic encephalopathy 93; Autosomal recessive cutis laxa ty
- Missense
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy 93; Autosomal recessi)
- EBI: Likely pathogenic (in IECEE3)
- UniProt: Likely pathogenic (in IECEE3)
- Structural context available