A5V (p.Ala5Val) variant of CLN3 (Battenin)
A5V (p.Ala5Val) in CLN3 (Battenin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- Ensembl rs2046318971
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.