L12Q (p.Leu12Gln) variant of ALMS1 (Q8TCU4)
L12Q (p.Leu12Gln) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions and population frequency data.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- cosmic curated COSV52518
- Ensembl rs200709146
- Missense
- MetaLR 0.10
- MetaSVM -1.09
- CADD 29.70
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available