H3P (p.His3Pro) variant of RAF1 (P04049)
H3P (p.His3Pro) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H3P (p.His3Pro) variant details
- p.His3Pro
- rs1877563014
- gnomAD 14-20891763-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.01
- CADD 18.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.604
- Literature evidence available