H3Q (p.His3Gln) variant of RAF1 (P04049)
H3Q (p.His3Gln) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H3Q (p.His3Gln) variant details
- p.His3Gln
- rs371854422
- gnomAD 14-20891764-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0685
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.91
- CADD 3.91
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.604
- Literature evidence available