E61A (p.Glu61Ala) variant of CHM (P24386)
E61A (p.Glu61Ala) in CHM (P24386) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E61A (p.Glu61Ala) variant details
- p.Glu61Ala
- rs372819339
- ClinGen CA10465631
- ClinVar RCV001343158
- ClinVar RCV001831092
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.09
- MetaLR 0.21
- MetaSVM -0.85
- CADD 23.60
- PolyPhen-2 0.26
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)