S6I (p.Ser6Ile) variant of SRC (P12931)
S6I (p.Ser6Ile) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- gnomAD 20-37384170-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.52
- MetaLR 0.48
- MetaSVM 0.01
- CADD 30.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.259
- Literature evidence available