P20A (p.Pro20Ala) variant of SRC (P12931)
P20A (p.Pro20Ala) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- ExAC rs753143221
- TOPMed rs753143221
- gnomAD rs753143221
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.13
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.3