S14L (p.Ser14Leu) variant of CHD2 (O14647)
S14L (p.Ser14Leu) in CHD2 (O14647) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- NCI-TCGA Cosmic COSV5912
- cosmic curated COSV59120
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.42
- MetaLR 0.74
- MetaSVM 0.43
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available