M101I (p.Met101Ile) variant of HCN1 (O60741)
M101I (p.Met101Ile) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, 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 0.53 / 1. The record also includes population frequency data and structural context.
M101I (p.Met101Ile) variant details
- p.Met101Ile
- rs1456742212
- ClinGen CA359706321
- ClinVar RCV002280501
- ClinGen CA359706322
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available