L116V (p.Leu116Val) variant of GABRB3 (P28472)
L116V (p.Leu116Val) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
L116V (p.Leu116Val) variant details
- p.Leu116Val
- rs1555371873
- ClinGen CA391460911
- ClinVar RCV000658707
- Ensembl rs1555371873
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.71
- MetaLR 0.51
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available