K26T (p.Lys26Thr) variant of PCDH19 (Protocadherin-19)
K26T (p.Lys26Thr) in PCDH19 (Protocadherin-19) 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 0.42 / 1. The record also includes structural context.
K26T (p.Lys26Thr) variant details
- p.Lys26Thr
- rs755403368
- ClinGen CA414011427
- ClinVar RCV001752838
- ExAC rs755403368
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- AlphaMissense 0.73
- MetaLR 0.21
- MetaSVM -0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available