D113Y (p.Asp113Tyr) variant of CNGA1 (P29973)
D113Y (p.Asp113Tyr) in CNGA1 (P29973) 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 0.23 / 1. The record also includes population frequency data and structural context.
D113Y (p.Asp113Tyr) variant details
- p.Asp113Tyr
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Ensembl rs1739206510
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.05
- CADD 16.30
- PolyPhen-2 0.26
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available