T10M (p.Thr10Met) variant of RAF1 (P04049)
T10M (p.Thr10Met) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Noonan syndrome and Noonan-related syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T10M (p.Thr10Met) variant details
- p.Thr10Met
- rs144637992
- ClinGen CA2259851
- ClinVar RCV000522586
- ClinVar RCV001813497
- Uncertain significance
- Cardiovascular phenotype; not provided; Noonan syndrome and Noonan-related syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.17
- MetaLR 0.30
- MetaSVM -0.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Noonan syndrome and Noon)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score 0.166