L102Q (p.Leu102Gln) variant of HCN1 (O60741)
L102Q (p.Leu102Gln) in HCN1 (O60741) 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 0.74 / 1. The record also includes structural context.
L102Q (p.Leu102Gln) variant details
- p.Leu102Gln
- rs886042909
- ClinGen CA10604848
- ClinVar RCV000383662
- Ensembl rs886042909
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.62
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available