T51A (p.Thr51Ala) variant of SRSF2 (Q01130)
T51A (p.Thr51Ala) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
T51A (p.Thr51Ala) variant details
- p.Thr51Ala
- gnomAD rs2077536769
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.76
- CADD 28.70
- Most common in the African/African-American population (allele frequency 2.4e-05)