S54F (p.Ser54Phe) variant of SRSF2 (Q01130)
S54F (p.Ser54Phe) in SRSF2 (Q01130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- cosmic curated COSV57971
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)