P30A (p.Pro30Ala) variant of RAF1 (P04049)
P30A (p.Pro30Ala) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- gnomAD 14-20891774-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0636
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.02
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.168
- Literature evidence available