A22V (p.Ala22Val) variant of CCNE1 (G1/S-specific cyclin-E1)
A22V (p.Ala22Val) in CCNE1 (G1/S-specific cyclin-E1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs578227778
- NCI-TCGA Cosmic COSV5290
- cosmic curated COSV52903
- 1000Genomes rs578227778
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.08
- CADD 6.55
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available