S10G (p.Ser10Gly) variant of ANK2 (Ankyrin-2)
S10G (p.Ser10Gly) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S10G (p.Ser10Gly) variant details
- p.Ser10Gly
- gnomAD rs1440598505
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.07
- CADD 24.10
- PolyPhen-2 0.66
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.464