V69L (p.Val69Leu) variant of CHM (P24386)
V69L (p.Val69Leu) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- rs145088557
- ClinGen CA10465621
- ClinVar RCV001513388
- ClinVar RCV001832692
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.01
- CADD 5.99
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.0017)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)