S12R (p.Ser12Arg) variant of SRC (P12931)
S12R (p.Ser12Arg) in SRC (P12931) 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, and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- Ensembl rs2070408905
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.14
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.309