A71V (p.Ala71Val) variant of ELN (Elastin)
A71V (p.Ala71Val) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Supravalvar aortic stenosis; Cutis laxa, autosomal dominant 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- rs41350445
- ClinGen CA132761
- cosmic curated COSV52712
- ClinVar RCV000036526
- Uncertain significance
- not specified; Supravalvar aortic stenosis; Cutis laxa, autosomal dominant 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.19
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TUJIA population (allele frequency 0.1)
- Structural context available
- Cited in: FBLN5-Related Cutis Laxa. (PMID 20301756)
- Cited in: ELN-Related Cutis Laxa. (PMID 36173875)