L70F (p.Leu70Phe) variant of KCNJ10 (P78508)
L70F (p.Leu70Phe) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1.
L70F (p.Leu70Phe) variant details
- p.Leu70Phe
- rs1648628910
- ClinGen CA343229572
- NCI-TCGA Cosmic COSV6363
- cosmic curated COSV63634
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.36
- MetaLR 0.84
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.13
- EVE 0.35
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance