A12T (p.Ala12Thr) variant of ARAF (P10398)
A12T (p.Ala12Thr) in ARAF (P10398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD X-47563001-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.18
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score 0.0188
- Literature evidence available