V35A (p.Val35Ala) variant of KMT2E (Histone reader KMT2E)
V35A (p.Val35Ala) in KMT2E (Histone reader KMT2E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- rs542916850
- ClinGen CA4423616
- ClinVar RCV003659143
- ClinVar RCV005363165
- Benign/Likely benign
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.45
- SIFT 0.10
- ClinVar: Benign/Likely benign (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)