P2S (p.Pro2Ser) variant of CCNE1 (G1/S-specific cyclin-E1)
P2S (p.Pro2Ser) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- TOPMed rs995865961
- gnomAD rs995865961
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.12
- CADD 23.90
- PolyPhen-2 0.59
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available