T32K (p.Thr32Lys) variant of KCNJ10 (P78508)
T32K (p.Thr32Lys) in KCNJ10 (P78508) 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 0.62 / 1. The record also includes structural context.
T32K (p.Thr32Lys) variant details
- p.Thr32Lys
- rs1648631972
- cosmic curated COSV63633
- ClinVar RCV004588656
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.49
- MetaLR 0.75
- MetaSVM 0.44
- PolyPhen-2 0.92
- SIFT 0.18
- EVE 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available