T20A (p.Thr20Ala) variant of KRAS (GTPase KRas)
T20A (p.Thr20Ala) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiofaciocutaneous syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes experimental measurements, published literature, and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- rs2135806003
- ClinGen CA384157392
- ClinVar RCV001420539
- Ensembl rs2135806003
- Uncertain significance
- Cardiofaciocutaneous syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- AlphaMissense 0.96
- MetaLR 0.56
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Cardiofaciocutaneous syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.194
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)