E14V (p.Glu14Val) variant of ALMS1 (Q8TCU4)
E14V (p.Glu14Val) in ALMS1 (Q8TCU4) is a missense change.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- cosmic curated COSV10458
- Ensembl rs1574423658
- Missense
E14V (p.Glu14Val) in ALMS1 (Q8TCU4) is a missense change.