P20A (p.Pro20Ala) variant of ETV6 (Transcription factor ETV6)
P20A (p.Pro20Ala) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- gnomAD 12-11752474-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.10
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available