A72V (p.Ala72Val) variant of KRT4 (Keratin, type II cytoskeletal 4)
A72V (p.Ala72Val) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; White sponge nevus 1. 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.
A72V (p.Ala72Val) variant details
- p.Ala72Val
- rs2638525
- ClinGen CA6588815
- ClinVar RCV000333357
- ClinVar RCV001672476
- Benign
- not provided; White sponge nevus 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.06
- CADD 12.90
- PolyPhen-2 0.08
- SIFT 0.12
- ClinVar: Benign (not provided; White sponge nevus 1)
- EBI: Benign (in allele K4A1)
- UniProt: Benign (in allele K4A1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on… (PMID 7684424)