L104V (p.Leu104Val) variant of ABCC8 (Q09428)
L104V (p.Leu104Val) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
L104V (p.Leu104Val) variant details
- p.Leu104Val
- rs10400391
- UniProt VAR 029777
- Ensembl rs10400391
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.26
- MetaLR 0.89
- MetaSVM 0.75
- PolyPhen-2 0.98
- SIFT 0.02
- EVE 0.41
- Structural context available